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Variant (rsID / SNP)

rs187956469

PLCG2

rs187956469 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PLCG2. Location: chromosome 16, position 81,939,089. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

PLCG2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
16:81939089
Cytoband
16q23.3
HGVS
NM_002661.5(PLCG2):c.1444T>C (p.Tyr482His)
Allele change
Missense_Y482H

Associated conditions / phenotypes

Familial cold autoinflammatory syndrome 3

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.